BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

372 related articles for article (PubMed ID: 23272691)

  • 1. Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.
    Falk MJ; Pierce EA; Consugar M; Xie MH; Guadalupe M; Hardy O; Rappaport EF; Wallace DC; LeProust E; Gai X
    Discov Med; 2012 Dec; 14(79):389-99. PubMed ID: 23272691
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
    Abicht A; Scharf F; Kleinle S; Schön U; Holinski-Feder E; Horvath R; Benet-Pagès A; Diebold I
    Mol Genet Genomic Med; 2018 Nov; 6(6):1188-1198. PubMed ID: 30406974
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.
    Wagner M; Berutti R; Lorenz-Depiereux B; Graf E; Eckstein G; Mayr JA; Meitinger T; Ahting U; Prokisch H; Strom TM; Wortmann SB
    J Inherit Metab Dis; 2019 Sep; 42(5):909-917. PubMed ID: 31059585
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
    Barretta F; Uomo F; Caldora F; Mocerino R; Adamo D; Testa F; Simonelli F; Scudiero O; Tinto N; Frisso G; Mazzaccara C
    Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239447
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Targeted exome sequencing of suspected mitochondrial disorders.
    Lieber DS; Calvo SE; Shanahan K; Slate NG; Liu S; Hershman SG; Gold NB; Chapman BA; Thorburn DR; Berry GT; Schmahmann JD; Borowsky ML; Mueller DM; Sims KB; Mootha VK
    Neurology; 2013 May; 80(19):1762-70. PubMed ID: 23596069
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases].
    Rucheton B; Ader F; Goudenege D; Filaut S; Legrand L; Bloch A; MitoDiag R; Fressart V; Bonnefont-Rousselot D; Mochel F; Lamari F; Richard P; Procaccio V; Bannwarth S
    Ann Biol Clin (Paris); 2021 Feb; 79(1):28-40. PubMed ID: 33586649
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing.
    Palculict ME; Zhang VW; Wong LJ; Wang J
    Methods Mol Biol; 2016; 1351():3-17. PubMed ID: 26530670
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
    Griffin HR; Pyle A; Blakely EL; Alston CL; Duff J; Hudson G; Horvath R; Wilson IJ; Santibanez-Koref M; Taylor RW; Chinnery PF
    Genet Med; 2014 Dec; 16(12):962-71. PubMed ID: 24901348
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sequence analysis of the whole mitochondrial genome and nuclear genes causing mitochondrial disorders.
    Landsverk ML; Cornwell ME; Palculict ME
    Methods Mol Biol; 2012; 837():281-300. PubMed ID: 22215555
    [TBL] [Abstract][Full Text] [Related]  

  • 10. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
    Pronicka E; Piekutowska-Abramczuk D; Ciara E; Trubicka J; Rokicki D; Karkucińska-Więckowska A; Pajdowska M; Jurkiewicz E; Halat P; Kosińska J; Pollak A; Rydzanicz M; Stawinski P; Pronicki M; Krajewska-Walasek M; Płoski R
    J Transl Med; 2016 Jun; 14(1):174. PubMed ID: 27290639
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
    Akesson LS; Eggers S; Love CJ; Chong B; Krzesinski EI; Brown NJ; Tan TY; Richmond CM; Thorburn DR; Christodoulou J; Hunter MF; Lunke S; Stark Z
    Eur J Hum Genet; 2019 Dec; 27(12):1821-1826. PubMed ID: 31358953
    [TBL] [Abstract][Full Text] [Related]  

  • 12. MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
    Kerr M; Hume S; Omar F; Koo D; Barnes H; Khan M; Aman S; Wei XC; Alfuhaid H; McDonald R; McDonald L; Newell C; Sparkes R; Hittel D; Khan A
    Mol Genet Metab; 2020; 131(1-2):66-82. PubMed ID: 32980267
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fidelity of capture-enrichment for mtDNA genome sequencing: influence of NUMTs.
    Li M; Schroeder R; Ko A; Stoneking M
    Nucleic Acids Res; 2012 Oct; 40(18):e137. PubMed ID: 22649055
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
    Calvo SE; Compton AG; Hershman SG; Lim SC; Lieber DS; Tucker EJ; Laskowski A; Garone C; Liu S; Jaffe DB; Christodoulou J; Fletcher JM; Bruno DL; Goldblatt J; Dimauro S; Thorburn DR; Mootha VK
    Sci Transl Med; 2012 Jan; 4(118):118ra10. PubMed ID: 22277967
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data.
    Diroma MA; Calabrese C; Simone D; Santorsola M; Calabrese FM; Gasparre G; Attimonelli M
    BMC Genomics; 2014; 15 Suppl 3(Suppl 3):S2. PubMed ID: 25077682
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
    Macken WL; Falabella M; Pizzamiglio C; Woodward CE; Scotchman E; Chitty LS; Polke JM; Bugiardini E; Hanna MG; Vandrovcova J; Chandler N; Labrum R; Pitceathly RDS
    Expert Rev Mol Diagn; 2023; 23(9):797-814. PubMed ID: 37642407
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Nuclear genome-wide associations with mitochondrial heteroplasmy.
    Nandakumar P; Tian C; O'Connell J; ; Hinds D; Paterson AD; Sondheimer N
    Sci Adv; 2021 Mar; 7(12):. PubMed ID: 33731350
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Utility of array CGH in molecular diagnosis of mitochondrial disorders.
    Wang J; Rakhade M
    Methods Mol Biol; 2012; 837():301-12. PubMed ID: 22215556
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.
    Santibanez-Koref M; Griffin H; Turnbull DM; Chinnery PF; Herbert M; Hudson G
    Mitochondrion; 2019 May; 46():302-306. PubMed ID: 30098421
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial pseudogenes in the nuclear genome of Aedes aegypti mosquitoes: implications for past and future population genetic studies.
    Hlaing T; Tun-Lin W; Somboon P; Socheat D; Setha T; Min S; Chang MS; Walton C
    BMC Genet; 2009 Mar; 10():11. PubMed ID: 19267896
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.